CDC-Authored Genomics and Precision Health Publications Database
Last data update: Sep 03, 2024. (Total: 6282 publications)
Query Trace: Newborn screening[original query] |
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Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?
Sarafoglou K , Gaviglio A , Wolf C , Lorentz CP , Lteif A , Kyllo J , Radloff G , Detwiler Z , Cuthbert CD , Hodges JS , Grosse SD , Greene CN , Cordovado S . J Clin Endocrinol Metab 2024 |
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Adang LA , Bonkowsky JL , Boelens JJ , Mallack E , Ahrens-Nicklas R , Bernat JA , Bley A , Burton B , Darling A , Eichler F , Eklund E , Emrick L , Escolar M , Fatemi A , Fraser JL , Gaviglio A , Keller S , Patterson MC , Orchard P , Orthmann-Murphy J , Santoro JD , Schöls L , Sevin C , Srivastava IN , Rajan D , Rubin JP , Van Haren K , Wasserstein M , Zerem A , Fumagalli F , Laugwitz L , Vanderver A . Cytotherapy 2024 |
Birth prevalence of sickle cell disease and county-level social vulnerability - sickle cell data collection program, 11 States, 2016-2020
Kayle M , Blewer AL , Pan W , Rothman JA , Polick CS , Rivenbark J , Fisher E , Reyes C , Strouse JJ , Weeks S , Desai JR , Snyder AB , Zhou M , Sutaria A , Valle J , Horiuchi SS , Sontag MK , Miller JI , Singh A , Dasgupta M , Janson IA , Galadanci N , Reeves SL , Latta K , Hurden I , Cromartie SJ , Plaxco AP , Mukhopadhyay A , Smeltzer MP , Hulihan M . MMWR Morb Mortal Wkly Rep 2024 73 (12) 248-254 |
Newborn screening: from Guthrie to whole genome sequencing.
Caggana M , Jones EA , Shahied SI , Tanksley S , Hermerath CA , Lubin IM . Public Health Rep 2013 128 Suppl 2 14-9 |
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK , Martinez CA , Sorte HS , Forbes LR , Demmler-Harrison GJ , Hanson IC , Pearson NM , Noroski LM , Zaki SR , Bellini WJ , Leduc MS , Yang Y , Eng CM , Patel A , Rodningen OK , Muzny DM , Gibbs RA , Campbell IM , Shaw CA , Baker MW , Zhang V , Lupski JR , Orange JS , Seeborg FO , Stray-Pedersen A . Clin Exp Immunol 2014 178 (3) 459-69 |
CDC Grand Rounds: Newborn screening and improved outcomes.
Howell RR , Terry S , Tait VF , Olney R , Hinton CF , Grosse S , Eichwald J , Cuthbert C , Popovic T , Glidewell J . MMWR Morb Mortal Wkly Rep 2012 61 (21) 390-3 |
Progress in expanding newborn screening in the United States
Grosse SD , Cuthbert C , Gaffney M , Gaviglio A , Hinton CF , Kellar-Guenther Y , Kemper AR , McKasson S , Ojodu J , Riley C , Singh S , Sontag MK , Shapira SK . Am J Hum Genet 2023 110 (6) 1015-1016 |
Implementation of newborn screening for conditions in the United States first recommended during 2010-2018
Singh S , Ojodu J , Kemper AR , Lam WKK , Grosse SD . Int J Neonatal Screen 2023 9 (2) |
Newborn screening for congenital hypothyroidism and phenylketonuria-beyond cost savings
Grosse SD , Van Vliet G . J Pediatr 2023 258 113417 |
Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.
Baumann U , Schulte JH , Gro JP , Beier R , Ludwig M , Wahn V , Hofmann J , Maecker-Kolhoff B , Sauer M , Kaiser-Labusch P , Karimian N , Blume-Peytavi U , Ghoreschi F , Ott H , Perelygina L , Klemann C , Blankenstein O , vonBernuth H , Krger R . Front Immunol 2022 13 886540 |
Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode.
Teber TA , Conti BJ , Haynes CA , Hietala A , Baker MW . Int J Neonatal Screen 2022 8 (2) |
Genomics and Newborn Screening: Perspectives of Public Health Programs.
Goldenberg AJ , Ponsaran R , Gaviglio A , Simancek D , Tarini BA . Int J Neonatal Screen 2022 8 (1) |
Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic.
Simon D , Broadbridge E , Baker M , Gaviglio A , Gruber D , Piper KN , Tavakoli NP , Sullivan J , Kennedy A . Int J Neonatal Screen 2022 8 (1) |
Newborn Screening Practices for Beta-Thalassemia in the United States.
Bender MA , Hulihan M , Dorley MC , Aguinaga MDP , Ojodu J , Yusuf C . Int J Neonatal Screen 2021 7 (4) |
Detection of Cytomegalovirus in Urine Dried on Filter Paper.
Amin MM , Wong P , McCann M , Dollard SC . J Pediatric Infect Dis Soc 2021 10 (10) 958-961 ![]() |
Sensitivity of dried blood spot testing for detection of congenital cytomegalovirus infection
Dollard SC , Dreon M , Hernandez-Alvarado N , Amin MM , Wong P , Lanzieri TM , Osterholm EA , Sidebottom A , Rosendahl S , McCann MT , Schleiss MR . JAMA Pediatr 2021 175 (3) e205441 ![]() |
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Richardson JS , Kemper AR , Grosse SD , Lam WKK , Rose AM , Ahmad A , Gebremariam A , Prosser LA . Genet Med 2020 23 (4) 758-766 |
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project.
Prior TW , Bayrak-Toydemir P , Lynnes TC , Mao R , Metcalf JD , Muralidharan K , Iwata-Otsubo A , Pham HT , Pratt VM , Qureshi S , Requesens D , Shen J , Vetrini F , Kalman L . J Mol Diagn 2020 23 (1) 103-110 |
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.
Sontag MK , Yusuf C , Grosse SD , Edelman S , Miller JI , McKasson S , Kellar-Guenther Y , Gaffney M , Hinton CF , Cuthbert C , Singh S , Ojodu J , Shapira SK . MMWR Morb Mortal Wkly Rep 2020 69 (36) 1265-1268 |
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.
Hendrix MM , Cuthbert CD , Cordovado SK . Int J Neonatal Screen 2020 6 (2) 1-15 ![]() |
Ensuring the Life-Span Benefits of Newborn Screening.
Kemper AR , Boyle CA , Brosco JP , Grosse SD . Pediatrics 2019 144 (6) |
Evaluation of rapid and sensitive DNA extraction methods for detection of cytomegalovirus in dried blood spots.
Koontz D , Dollard S , Cordovado S . J Virol Methods 2019 265 117-120 ![]() |
Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.
Prosser LA , Lam KK , Grosse SD , Casale M , Kemper AR . MDM Policy Pract 2018 2018 (1) |
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening.
Rosenthal NA , Bezar E , Mann S , Bachrach LK , Banerjee S , Geffner ME , Gottschalk M , Shapira SK , Hasegawa L , Feuchtbaum L . Ann Thyroid Res 2017 3 (1) 95-101 |
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid a-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N , Huang J , Violante S , Orsini JJ , Caggana M , Hughes EE , Stevens C , DiAntonio L , Chieh Liao H , Hong X , Ghomashchi F , Babu Kumar A , Zhou H , Kornreich R , Wasserstein M , Gelb MH , Yu C . Clin Chem 2017 63 (4) 842-851 |
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
Hendrix MM , Foster SL , Cordovado SK . J Inborn Errors Metab Screen 2016 4 |
Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.
Grosse SD , Lam WK , Wiggins LD , Kemper AR . Genet Med 2017 19 (9) 975-982 |
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Kemper AR , Brosco J , Comeau AM , Green NS , Grosse SD , Jones E , Kwon JM , Lam WK , Ojodu J , Prosser LA , Tanksley S . Genet Med 2016 19 (1) 121-126 |
A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Hinton CF , Homer CJ , Thompson AA , Williams A , Hassell KL , Feuchtbaum L , Berry SA , Comeau AM , Therrell BL , Brower A , Harris KB , Brown C , Monaco J , Ostrander RJ , Zuckerman AE , Kaye C , Dougherty D , Greene C , Green NS . Mol Genet Metab 2016 118 (4) 221-9 |
Clinical follow-up for Duchenne muscular dystrophy newborn sreening: A proposal
Kwon JM , Abdel-Hamid HZ , Al-Zaidy SA , Mendell JR , Kennedy A , Kinnett K , Cwik VA , Street N , Bolen J , Day JW , Connolly AM . Muscle Nerve 2016 54 (2) 186-91 |
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